A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761655



Internal ID10374453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85968474..85977902hg38UCSC Ensembl
Innerchr15:86511705..86521133hg19UCSC Ensembl
Innerchr15:84312709..84322137hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg389429
hg199429
hg189429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv46e203
Supporting Variantsessv7000402, essv7000403
SamplesSW_1057, SW_0076
Known Genes
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2761655
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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